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Nucleosome positioning stability is a modulator of germline mutation rate variation across the human genome
https://oist.repo.nii.ac.jp/records/1426
https://oist.repo.nii.ac.jp/records/14261614f03b-108c-4a56-9295-0c1bd24534ad
名前 / ファイル | ライセンス | アクション |
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s41467-020-15185-0 (3.1 MB)
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Creative Commons Attribution 4.0 International(https://creativecommons.org/licenses/by/4.0/)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2020-04-28 | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | Nucleosome positioning stability is a modulator of germline mutation rate variation across the human genome | |||||
言語 | ||||||
言語 | eng | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
著者(英) |
Li, Cai
× Li, Cai× Luscombe, Nicholas M. |
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書誌情報 |
en : Nature Communications 巻 11, 号 1, p. 1363, 発行日 2020-03-13 |
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抄録 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Nucleosome organization has been suggested to affect local mutation rates in the genome. However, the lack of de novo mutation and high-resolution nucleosome data has limited the investigation of this hypothesis. Additionally, analyses using indirect mutation rate measurements have yielded contradictory and potentially confounding results. Here, we combine data on >300,000 human de novo mutations with high-resolution nucleosome maps and find substantially elevated mutation rates around translationally stable ('strong') nucleosomes. We show that the mutational mechanisms affected by strong nucleosomes are low-fidelity replication, insufficient mismatch repair and increased double-strand breaks. Strong nucleosomes preferentially locate within young SINE/LINE transposons, suggesting that when subject to increased mutation rates, transposons are then more rapidly inactivated. Depletion of strong nucleosomes in older transposons suggests frequent positioning changes during evolution. The findings have important implications for human genetics and genome evolution. | |||||
出版者 | ||||||
出版者 | Nature Research | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 2041-1723 | |||||
PubMed番号 | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | PMID | |||||
関連識別子 | info:pmid/32170069 | |||||
DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | info:doi/10.1038/s41467-020-15185-0 | |||||
権利 | ||||||
権利情報 | © 2020 The Author(s) | |||||
情報源 | ||||||
関連名称 | https://creativecommons.org/licenses/by/4.0/ | |||||
関連サイト | ||||||
識別子タイプ | URI | |||||
関連識別子 | https://www.nature.com/articles/s41467-020-15185-0 | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 |